Bijlsma EK - Search Results

1

Increased nuchal translucency thickness and normal karyotype: time for parental reassurance.

Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Bilardo CM, et al. Among authors: bijlsma ek. Ultrasound Obstet Gynecol. 2007 Jul;30(1):11-8. doi: 10.1002/uog.4044. Ultrasound Obstet Gynecol. 2007. PMID: 17559183 Free article.

2

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus.

Bijlsma EK, Knegt AC, Bilardo CM, Goodman FR. Bijlsma EK, et al. Prenat Diagn. 2005 Jan;25(1):39-44. doi: 10.1002/pd.1080. Prenat Diagn. 2005. PMID: 15662696

3

Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents.

van Huizen ME, Pighetti M, Bijlsma EK, Knegt AC, Bilardo CM. van Huizen ME, et al. Among authors: bijlsma ek. Ultrasound Obstet Gynecol. 2005 Dec;26(7):793-4. doi: 10.1002/uog.2642. Ultrasound Obstet Gynecol. 2005. PMID: 16308905 Free article. No abstract available.

4

Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases.

van Huizen ME, Knegt AC, Bijlsma EK, Bilardo CM. van Huizen ME, et al. Among authors: bijlsma ek. Prenat Diagn. 2004 Dec 15;24(12):1020-1. doi: 10.1002/pd.1047. Prenat Diagn. 2004. PMID: 15614873 No abstract available.

5

A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy.

Pelikan HM, Bijlsma EK, van Wijngaarden WJ. Pelikan HM, et al. Among authors: bijlsma ek. Arch Gynecol Obstet. 2007 Nov;276(5):533-5. doi: 10.1007/s00404-007-0378-5. Epub 2007 Jun 26. Arch Gynecol Obstet. 2007. PMID: 17593380

6

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. van Karnebeek CD, et al. Among authors: bijlsma ek. J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546. J Med Genet. 2002. PMID: 12161591 Free PMC article.

7

Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study.

van Engelen K, Bartelings MM, Gittenberger-de Groot AC, Baars MJ, Postma AV, Bijlsma EK, Mulder BJ, Jongbloed MR. van Engelen K, et al. Among authors: bijlsma ek. Fetal Diagn Ther. 2014;36(1):59-68. doi: 10.1159/000357706. Epub 2014 Jun 4. Fetal Diagn Ther. 2014. PMID: 24903004

8

Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.

Knegt AC, Li S, Engelen JJ, Bijlsma EK, Warburton PE. Knegt AC, et al. Among authors: bijlsma ek. Prenat Diagn. 2003 Mar;23(3):215-20. doi: 10.1002/pd.559. Prenat Diagn. 2003. PMID: 12627422

9

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.

Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC. Bijlsma EK, et al. J Med Genet. 1999 Aug;36(8):604-9. J Med Genet. 1999. PMID: 10465110 Free PMC article.

10

Prenatal exome sequencing: A useful tool for the fetal neurologist.

de Koning MA, Hoffer MJV, Nibbeling EAR, Bijlsma EK, Toirkens MJP, Adama-Scheltema PN, Verweij EJ, Veenhof MB, Santen GWE, Peeters-Scholte CMPCD. de Koning MA, et al. Among authors: bijlsma ek. Clin Genet. 2022 Jan;101(1):65-77. doi: 10.1111/cge.14070. Epub 2021 Oct 19. Clin Genet. 2022. PMID: 34611884 Free PMC article.

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